A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes

Table 4

Pathogenicity of candidate gene mutation sites predicted by bioinformatics.

Gene	HGVSc	SIFT	PolyPhen2_HDIV	PolyPhen2_HVAR	MutationTaster	MutationAssessor	FATHMM	GERP_plus	PhyloP	PhastCons
EIF2AK3	c.1087T > C	0.082	0.001	0.002	1	1.355	−0.7	−2.75	−0.26	0
IRS1	c.2137C > T	0.022	0.576	0.123	0.949	1.1	0.42	3.87	1.241	0.887
ABCC2	c.1007C > T	0.504	0.031	0.025	1	0.7	−2.53	−6.28	−0.077	0
F7	c.265G > C	0.021	0.985	0.801	1	4.26	−6.94	4.34	5.64	1
GATA6	c.1282A > G	0.24	0.003	0.002	1	0.525	−6.31	4.11	7.229	1

HGVSc: human genome variation society cDNA; SIFT: deleterious (<0.05); PolyPhen2_HDIV: probably damaging (≥0.957), possibly damaging (0.453 ≤ pp2_hdiv ≤ 0.956); benign (≤0.452); PolyPhen2_HVAR: probably damaging (≥0.909), possibly damaging (0.447 ≤ pp2_hdiv ≤ 0.909); benign (≤0.446); MutationTaster: deleterious (>0.5); MutationAssessor: deleterious (>1.938); FATHMM: deleterious (<−1.5); GERP_plus: deleterious (>3); PhyloP: deleterious (>2.5); PhastCons: deleterious (>0.6).